UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.87612307_87612331dup | CA2671358383 | DSPP | c.136-15_145dup | gnomAD v4 |
| 4 | g.87612308T>G | CA100849353 | DSPP | c.136-14T>G (n.136-14T>G) | dbSNP |
| 4 | g.87612308T= | CA1474384395 | DSPP | c.136-14T= (n.136-14T=) | |
| 4 | g.87612309G>C | CA553085323 | DSPP | c.136-13G>C (n.136-13G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612309G= | CA1474384396 | DSPP | c.136-13G= (n.136-13G=) | |
| 4 | g.87612309G>T | CA100849360 | DSPP | c.136-13G>T (n.136-13G>T) | dbSNP |
| 4 | g.87612310T>C | CA2578139779 | DSPP | c.136-12T>C (n.136-12T>C) | |
| 4 | g.87612313C>A | CA2671358384 | DSPP | c.136-9C>A (n.136-9C>A) | gnomAD v4 |
| 4 | g.87612313C>T | CA2671358385 | DSPP | c.136-9C>T (n.136-9C>T) | gnomAD v4 |
| 4 | g.87612314T>A | CA1474384398 | DSPP | c.136-8T>A (n.136-8T>A) | dbSNP gnomAD v4 |
| 4 | g.87612314T= | CA1474384397 | DSPP | c.136-8T= (n.136-8T=) | |
| 4 | g.87612318T>C | CA2671358386 | DSPP | c.136-4T>C (n.136-4T>C) | gnomAD v4 |
| 4 | g.87612319C= | CA1474384399 | DSPP | c.136-3C= (n.136-3C=) | |
| 4 | g.87612319C>T | CA553085324 | DSPP | c.136-3C>T (n.136-3C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.87612320A>C | CA357602883 | DSPP | c.136-2A>C (n.136-2A>C) | |
| 4 | g.87612320A>G | CA357602884 | DSPP | c.136-2A>G (n.136-2A>G) | |
| 4 | g.87612320A>T | CA357602885 | DSPP | c.136-2A>T (n.136-2A>T) | |
| 4 | g.87612321G>A | CA357602886 | DSPP | c.136-1G>A (n.136-1G>A) | gnomAD v4 |
| 4 | g.87612321G>C | CA357602887 | DSPP | c.136-1G>C (n.136-1G>C) | |
| 4 | g.87612321G>T | CA357602888 | DSPP | c.136-1G>T (n.136-1G>T) | |
| 4 | g.87612322G>A | CA357602889 | DSPP | c.136G>A (p.Asp46Asn) | |
| 4 | g.87612322G>C | CA357602890 | DSPP | c.136G>C (p.Asp46His) | |
| 4 | g.87612322G>T | CA357602891 | DSPP | c.136G>T (p.Asp46Tyr) | |
| 4 | g.87612323A>C | CA357602892 | DSPP | c.137A>C (p.Asp46Ala) | |
| 4 | g.87612323A>G | CA357602893 | DSPP | c.137A>G (p.Asp46Gly) | |
| 4 | g.87612323A>T | CA357602894 | DSPP | c.137A>T (p.Asp46Val) | |
| 4 | g.87612324T>A | CA357602895 | DSPP | c.138T>A (p.Asp46Glu) | |
| 4 | g.87612324T>C | CA440294015 | DSPP | c.138T>C (p.Asp46=) | |
| 4 | g.87612324T>G | CA357602896 | DSPP | c.138T>G (p.Asp46Glu) | |
| 4 | g.87612325G>A | CA357602898 | DSPP | c.139G>A (p.Glu47Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612325G>C | CA357602899 | DSPP | c.139G>C (p.Glu47Gln) | |
| 4 | g.87612325G= | CA1474384400 | DSPP | c.139G= (p.Glu47=) | |
| 4 | g.87612325G>T | CA357602897 | DSPP | c.139G>T (p.Glu47Ter) | |
| 4 | g.87612326A>C | CA357602901 | DSPP | c.140A>C (p.Glu47Ala) | |
| 4 | g.87612326A>G | CA357602900 | DSPP | c.140A>G (p.Glu47Gly) | |
| 4 | g.87612326A>T | CA357602902 | DSPP | c.140A>T (p.Glu47Val) | |
| 4 | g.87612327G>A | CA440294020 | DSPP | c.141G>A (p.Glu47=) | |
| 4 | g.87612327G>C | CA357602903 | DSPP | c.141G>C (p.Glu47Asp) | |
| 4 | g.87612327G>T | CA357602904 | DSPP | c.141G>T (p.Glu47Asp) | |
| 4 | g.87612328T>A | CA357602905 | DSPP | c.142T>A (p.Leu48Ile) | |
| 4 | g.87612328T>C | CA440294023 | DSPP | c.142T>C (p.Leu48=) | |
| 4 | g.87612328T>G | CA357602906 | DSPP | c.142T>G (p.Leu48Val) | |
| 4 | g.87612329_87612330insTTTTTTT | CA2762527067 | DSPP | c.143_144insTTTTTTT (p.Leu48PhefsTer18) | |
| 4 | g.87612329T>A | CA357602907 | DSPP | c.143T>A (p.Leu48Ter) | |
| 4 | g.87612329T>C | CA357602908 | DSPP | c.143T>C (p.Leu48Ser) | |
| 4 | g.87612329T>G | CA357602909 | DSPP | c.143T>G (p.Leu48Ter) | |
| 4 | g.87612330A= | CA1474384401 | DSPP | c.144A= (p.Leu48=) | |
| 4 | g.87612330A>C | CA357602910 | DSPP | c.144A>C (p.Leu48Phe) | |
| 4 | g.87612330A>G | CA3000840 | DSPP | c.144A>G (p.Leu48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612330A>T | CA357602911 | DSPP | c.144A>T (p.Leu48Phe) | |
| 4 | g.87612331A>C | CA357602912 | DSPP | c.145A>C (p.Asn49His) | |
| 4 | g.87612331A>G | CA357602913 | DSPP | c.145A>G (p.Asn49Asp) | |
| 4 | g.87612331A>T | CA357602914 | DSPP | c.145A>T (p.Asn49Tyr) | |
| 4 | g.87612332A>C | CA357602917 | DSPP | c.146A>C (p.Asn49Thr) | |
| 4 | g.87612332A>G | CA357602915 | DSPP | c.146A>G (p.Asn49Ser) | |
| 4 | g.87612332A>T | CA357602916 | DSPP | c.146A>T (p.Asn49Ile) | |
| 4 | g.87612333T>A | CA357602918 | DSPP | c.147T>A (p.Asn49Lys) | |
| 4 | g.87612333T>C | CA440294028 | DSPP | c.147T>C (p.Asn49=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612333T>G | CA357602919 | DSPP | c.147T>G (p.Asn49Lys) | |
| 4 | g.87612333T= | CA1474384402 | DSPP | c.147T= (p.Asn49=) | |
| 4 | g.87612334G>A | CA357602920 | DSPP | c.148G>A (p.Ala50Thr) | dbSNP gnomAD v4 |
| 4 | g.87612334G>C | CA3000841 | DSPP | c.148G>C (p.Ala50Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612334G= | CA1474384403 | DSPP | c.148G= (p.Ala50=) | |
| 4 | g.87612334G>T | CA357602921 | DSPP | c.148G>T (p.Ala50Ser) | |
| 4 | g.87612335C>A | CA357602922 | DSPP | c.149C>A (p.Ala50Asp) | |
| 4 | g.87612335C= | CA1474384404 | DSPP | c.149C= (p.Ala50=) | |
| 4 | g.87612335C>G | CA357602923 | DSPP | c.149C>G (p.Ala50Gly) | |
| 4 | g.87612335C>T | CA357602924 | DSPP | c.149C>T (p.Ala50Val) | dbSNP gnomAD v4 |
| 4 | g.87612336C>A | CA440294033 | DSPP | c.150C>A (p.Ala50=) | |
| 4 | g.87612336C>G | CA440294034 | DSPP | c.150C>G (p.Ala50=) | |
| 4 | g.87612336C>T | CA440294035 | DSPP | c.150C>T (p.Ala50=) | |
| 4 | g.87612337A>C | CA357602925 | DSPP | c.151A>C (p.Ser51Arg) | |
| 4 | g.87612337A>G | CA357602926 | DSPP | c.151A>G (p.Ser51Gly) | |
| 4 | g.87612337A>T | CA357602927 | DSPP | c.151A>T (p.Ser51Cys) | gnomAD v4 |
| 4 | g.87612338G>A | CA357602930 | DSPP | c.152G>A (p.Ser51Asn) | |
| 4 | g.87612338G>C | CA357602929 | DSPP | c.152G>C (p.Ser51Thr) | |
| 4 | g.87612338G>T | CA357602928 | DSPP | c.152G>T (p.Ser51Ile) | |
| 4 | g.87612339T>A | CA357602931 | DSPP | c.153T>A (p.Ser51Arg) | gnomAD v4 |
| 4 | g.87612339T>C | CA3000842 | DSPP | c.153T>C (p.Ser51=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612339T>G | CA357602932 | DSPP | c.153T>G (p.Ser51Arg) | |
| 4 | g.87612339T= | CA1474384405 | DSPP | c.153T= (p.Ser51=) | |
| 4 | g.87612340G>A | CA3000843 | DSPP | c.154G>A (p.Gly52Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612340G>C | CA357602933 | DSPP | c.154G>C (p.Gly52Arg) | |
| 4 | g.87612340G= | CA1474384406 | DSPP | c.154G= (p.Gly52=) | |
| 4 | g.87612340G>T | CA357602934 | DSPP | c.154G>T (p.Gly52Ter) | gnomAD v4 |
| 4 | g.87612341G>A | CA357602935 | DSPP | c.155G>A (p.Gly52Glu) | |
| 4 | g.87612341G>C | CA357602936 | DSPP | c.155G>C (p.Gly52Ala) | |
| 4 | g.87612341G= | CA1474384407 | DSPP | c.155G= (p.Gly52=) | |
| 4 | g.87612341G>T | CA357602937 | DSPP | c.155G>T (p.Gly52Val) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612342A= | CA1474384408 | DSPP | c.156A= (p.Gly52=) | |
| 4 | g.87612342A>C | CA440294042 | DSPP | c.156A>C (p.Gly52=) | |
| 4 | g.87612342A>G | CA440294043 | DSPP | c.156A>G (p.Gly52=) | |
| 4 | g.87612342A>T | CA3000844 | DSPP | c.156A>T (p.Gly52=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612343A>C | CA357602938 | DSPP | c.157A>C (p.Thr53Pro) | |
| 4 | g.87612343A>G | CA357602939 | DSPP | c.157A>G (p.Thr53Ala) | |
| 4 | g.87612343A>T | CA357602940 | DSPP | c.157A>T (p.Thr53Ser) | |
| 4 | g.87612344C>A | CA357602943 | DSPP | c.158C>A (p.Thr53Asn) | |
| 4 | g.87612344C>G | CA357602941 | DSPP | c.158C>G (p.Thr53Ser) | |
| 4 | g.87612344C>T | CA357602942 | DSPP | c.158C>T (p.Thr53Ile) | |
| 4 | g.87612345C>A | CA440294046 | DSPP | c.159C>A (p.Thr53=) | |
| 4 | g.87612345C>G | CA440294047 | DSPP | c.159C>G (p.Thr53=) | |
| 4 | g.87612345C>T | CA440294048 | DSPP | c.159C>T (p.Thr53=) | COSMIC |
| 4 | g.87612346A= | CA1474384409 | DSPP | c.160A= (p.Ile54=) | |
| 4 | g.87612346A>C | CA357602944 | DSPP | c.160A>C (p.Ile54Leu) | |
| 4 | g.87612346A>G | CA357602945 | DSPP | c.160A>G (p.Ile54Val) | dbSNP gnomAD v4 |
| 4 | g.87612346A>T | CA357602946 | DSPP | c.160A>T (p.Ile54Phe) | |
| 4 | g.87612347T>A | CA357602947 | DSPP | c.161T>A (p.Ile54Asn) | |
| 4 | g.87612347T>C | CA357602948 | DSPP | c.161T>C (p.Ile54Thr) | |
| 4 | g.87612347T>G | CA357602949 | DSPP | c.161T>G (p.Ile54Ser) | gnomAD v4 |
| 4 | g.87612348C>A | CA440294051 | DSPP | c.162C>A (p.Ile54=) | |
| 4 | g.87612348C>G | CA357602950 | DSPP | c.162C>G (p.Ile54Met) | |
| 4 | g.87612348C>T | CA440294052 | DSPP | c.162C>T (p.Ile54=) | |
| 4 | g.87612349A>C | CA357602951 | DSPP | c.163A>C (p.Lys55Gln) | |
| 4 | g.87612349A>G | CA357602952 | DSPP | c.163A>G (p.Lys55Glu) | |
| 4 | g.87612349A>T | CA357602953 | DSPP | c.163A>T (p.Lys55Ter) | |
| 4 | g.87612350A>C | CA357602954 | DSPP | c.164A>C (p.Lys55Thr) | |
| 4 | g.87612350A>G | CA357602955 | DSPP | c.164A>G (p.Lys55Arg) | |
| 4 | g.87612350A>T | CA357602956 | DSPP | c.164A>T (p.Lys55Ile) | |
| 4 | g.87612351A>C | CA357602957 | DSPP | c.165A>C (p.Lys55Asn) | |
| 4 | g.87612351A>G | CA440294056 | DSPP | c.165A>G (p.Lys55=) | gnomAD v4 |
| 4 | g.87612351A>T | CA357602958 | DSPP | c.165A>T (p.Lys55Asn) | |
| 4 | g.87612352G>A | CA100849402 | DSPP | c.166G>A (p.Glu56Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612352G>C | CA357602959 | DSPP | c.166G>C (p.Glu56Gln) | |
| 4 | g.87612352G= | CA1474384410 | DSPP | c.166G= (p.Glu56=) | |
| 4 | g.87612352G>T | CA357602960 | DSPP | c.166G>T (p.Glu56Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612353A>C | CA357602961 | DSPP | c.167A>C (p.Glu56Ala) | |
| 4 | g.87612353A>G | CA357602962 | DSPP | c.167A>G (p.Glu56Gly) | |
| 4 | g.87612353A>T | CA357602963 | DSPP | c.167A>T (p.Glu56Val) | |
| 4 | g.87612354A>C | CA357602964 | DSPP | c.168A>C (p.Glu56Asp) | |
| 4 | g.87612354A>G | CA440294057 | DSPP | c.168A>G (p.Glu56=) | |
| 4 | g.87612354A>T | CA357602965 | DSPP | c.168A>T (p.Glu56Asp) | |
| 4 | g.87612355A>C | CA357602966 | DSPP | c.169A>C (p.Ser57Arg) | COSMIC |
| 4 | g.87612355A>G | CA357602967 | DSPP | c.169A>G (p.Ser57Gly) | |
| 4 | g.87612355A>T | CA357602968 | DSPP | c.169A>T (p.Ser57Cys) | |
| 4 | g.87612356G>A | CA357602969 | DSPP | c.170G>A (p.Ser57Asn) | dbSNP gnomAD v4 |
| 4 | g.87612356G>C | CA357602970 | DSPP | c.170G>C (p.Ser57Thr) | |
| 4 | g.87612356G= | CA1474384411 | DSPP | c.170G= (p.Ser57=) | |
| 4 | g.87612356G>T | CA357602971 | DSPP | c.170G>T (p.Ser57Ile) | |
| 4 | g.87612357T>A | CA357602973 | DSPP | c.171T>A (p.Ser57Arg) | |
| 4 | g.87612357T>C | CA3000845 | DSPP | c.171T>C (p.Ser57=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612357T>G | CA357602972 | DSPP | c.171T>G (p.Ser57Arg) | |
| 4 | g.87612357T= | CA1474384412 | DSPP | c.171T= (p.Ser57=) | |
| 4 | g.87612358G>A | CA357602974 | DSPP | c.172G>A (p.Gly58Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.87612358G>C | CA357602975 | DSPP | c.172G>C (p.Gly58Arg) | |
| 4 | g.87612358G= | CA1474384413 | DSPP | c.172G= (p.Gly58=) | |
| 4 | g.87612358G>T | CA357602976 | DSPP | c.172G>T (p.Gly58Cys) | |
| 4 | g.87612359G>A | CA357602977 | DSPP | c.173G>A (p.Gly58Asp) | |
| 4 | g.87612359G>C | CA357602978 | DSPP | c.173G>C (p.Gly58Ala) | |
| 4 | g.87612359G>T | CA357602979 | DSPP | c.173G>T (p.Gly58Val) | gnomAD v4 |
| 4 | g.87612360T>A | CA440294062 | DSPP | c.174T>A (p.Gly58=) | |
| 4 | g.87612360T>C | CA440294061 | DSPP | c.174T>C (p.Gly58=) | gnomAD v4 |
| 4 | g.87612360T>G | CA440294060 | DSPP | c.174T>G (p.Gly58=) | |
| 4 | g.87612361G>A | CA357602980 | DSPP | c.175G>A (p.Val59Ile) | |
| 4 | g.87612361G>C | CA357602981 | DSPP | c.175G>C (p.Val59Leu) | |
| 4 | g.87612361G>T | CA357602982 | DSPP | c.175G>T (p.Val59Phe) | |
| 4 | g.87612362T>A | CA357602983 | DSPP | c.176T>A (p.Val59Asp) | |
| 4 | g.87612362T>C | CA357602984 | DSPP | c.176T>C (p.Val59Ala) | gnomAD v4 |
| 4 | g.87612362T>G | CA357602985 | DSPP | c.176T>G (p.Val59Gly) | |
| 4 | g.87612363C>A | CA440294065 | DSPP | c.177C>A (p.Val59=) | |
| 4 | g.87612363C>G | CA440294066 | DSPP | c.177C>G (p.Val59=) | |
| 4 | g.87612363C>T | CA440294067 | DSPP | c.177C>T (p.Val59=) | |
| 4 | g.87612364C>A | CA3000846 | DSPP | c.178C>A (p.Leu60Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612364C= | CA1474384414 | DSPP | c.178C= (p.Leu60=) | |
| 4 | g.87612364C>G | CA357602986 | DSPP | c.178C>G (p.Leu60Val) | |
| 4 | g.87612364C>T | CA440294068 | DSPP | c.178C>T (p.Leu60=) | |
| 4 | g.87612365T>A | CA357602988 | DSPP | c.179T>A (p.Leu60Gln) | |
| 4 | g.87612365T>C | CA357602989 | DSPP | c.179T>C (p.Leu60Pro) | gnomAD v4 |
| 4 | g.87612365T>G | CA357602987 | DSPP | c.179T>G (p.Leu60Arg) | |
| 4 | g.87612366G>A | CA440294070 | DSPP | c.180G>A (p.Leu60=) | |
| 4 | g.87612366G>C | CA440294073 | DSPP | c.180G>C (p.Leu60=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612366G= | CA1474384415 | DSPP | c.180G= (p.Leu60=) | |
| 4 | g.87612366G>T | CA3000847 | DSPP | c.180G>T (p.Leu60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612367G>A | CA357602990 | DSPP | c.181G>A (p.Val61Met) | |
| 4 | g.87612367G>C | CA357602991 | DSPP | c.181G>C (p.Val61Leu) | |
| 4 | g.87612367G>T | CA357602992 | DSPP | c.181G>T (p.Val61Leu) | gnomAD v4 |
| 4 | g.87612368T>A | CA357602993 | DSPP | c.182T>A (p.Val61Glu) | |
| 4 | g.87612368T>C | CA357602994 | DSPP | c.182T>C (p.Val61Ala) | |
| 4 | g.87612368T>G | CA3000848 | DSPP | c.182T>G (p.Val61Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612368T= | CA1474384416 | DSPP | c.182T= (p.Val61=) | |
| 4 | g.87612369G>A | CA440294079 | DSPP | c.183G>A (p.Val61=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612369G>C | CA440294080 | DSPP | c.183G>C (p.Val61=) | |
| 4 | g.87612369G= | CA1474384417 | DSPP | c.183G= (p.Val61=) | |
| 4 | g.87612369G>T | CA440294081 | DSPP | c.183G>T (p.Val61=) | |
| 4 | g.87612370C>A | CA357602995 | DSPP | c.184C>A (p.His62Asn) | |
| 4 | g.87612370C>G | CA357602996 | DSPP | c.184C>G (p.His62Asp) | |
| 4 | g.87612370C>T | CA357602997 | DSPP | c.184C>T (p.His62Tyr) | gnomAD v4 |
| 4 | g.87612371A= | CA1474384418 | DSPP | c.185A= (p.His62=) | |
| 4 | g.87612371A>C | CA357602998 | DSPP | c.185A>C (p.His62Pro) | |
| 4 | g.87612371A>G | CA357602999 | DSPP | c.185A>G (p.His62Arg) | dbSNP |
| 4 | g.87612371A>T | CA357603000 | DSPP | c.185A>T (p.His62Leu) | dbSNP |
| 4 | g.87612372T>A | CA357603002 | DSPP | c.186T>A (p.His62Gln) | dbSNP |
| 4 | g.87612372T>C | CA3000849 | DSPP | c.186T>C (p.His62=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612372T>G | CA357603001 | DSPP | c.186T>G (p.His62Gln) | |
| 4 | g.87612372T= | CA1474384419 | DSPP | c.186T= (p.His62=) | |
| 4 | g.87612375_87612380del | CA440294086 | DSPP | c.189_194del (p.Glu63_Gly64del) | gnomAD v4 |
| 4 | g.87612373G>A | CA357603003 | DSPP | c.187G>A (p.Glu63Lys) | gnomAD v4 |
| 4 | g.87612373G>C | CA357603004 | DSPP | c.187G>C (p.Glu63Gln) | gnomAD v4 |
| 4 | g.87612373G>T | CA357603005 | DSPP | c.187G>T (p.Glu63Ter) | |
| 4 | g.87612374A>C | CA357603006 | DSPP | c.188A>C (p.Glu63Ala) | |
| 4 | g.87612374A>G | CA357603007 | DSPP | c.188A>G (p.Glu63Gly) | gnomAD v4 |
| 4 | g.87612374A>T | CA357603008 | DSPP | c.188A>T (p.Glu63Val) | |
| 4 | g.87612375A>C | CA357603009 | DSPP | c.189A>C (p.Glu63Asp) | |
| 4 | g.87612375A>G | CA440294089 | DSPP | c.189A>G (p.Glu63=) | |
| 4 | g.87612375A>T | CA357603010 | DSPP | c.189A>T (p.Glu63Asp) | |
| 4 | g.87612376G>A | CA357603011 | DSPP | c.190G>A (p.Gly64Ser) | |
| 4 | g.87612376G>C | CA357603012 | DSPP | c.190G>C (p.Gly64Arg) | |
| 4 | g.87612376G>T | CA357603013 | DSPP | c.190G>T (p.Gly64Cys) | |
| 4 | g.87612377G>A | CA3000850 | DSPP | c.191G>A (p.Gly64Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612377G>C | CA357603014 | DSPP | c.191G>C (p.Gly64Ala) | |
| 4 | g.87612377G= | CA1474384420 | DSPP | c.191G= (p.Gly64=) | |
| 4 | g.87612377G>T | CA357603015 | DSPP | c.191G>T (p.Gly64Val) | |
| 4 | g.87612378T>A | CA440294093 | DSPP | c.192T>A (p.Gly64=) | |
| 4 | g.87612378T>C | CA440294094 | DSPP | c.192T>C (p.Gly64=) | gnomAD v4 |
| 4 | g.87612378T>G | CA440294095 | DSPP | c.192T>G (p.Gly64=) | |
| 4 | g.87612379G>A | CA357603016 | DSPP | c.193G>A (p.Asp65Asn) | |
| 4 | g.87612379G>C | CA357603018 | DSPP | c.193G>C (p.Asp65His) | |
| 4 | g.87612379G>T | CA357603017 | DSPP | c.193G>T (p.Asp65Tyr) | |
| 4 | g.87612380A>C | CA357603019 | DSPP | c.194A>C (p.Asp65Ala) | |
| 4 | g.87612380A>G | CA357603021 | DSPP | c.194A>G (p.Asp65Gly) | |
| 4 | g.87612380A>T | CA357603020 | DSPP | c.194A>T (p.Asp65Val) | |
| 4 | g.87612381T>A | CA357603022 | DSPP | c.195T>A (p.Asp65Glu) | |
| 4 | g.87612381T>C | CA440294099 | DSPP | c.195T>C (p.Asp65=) | gnomAD v4 |
| 4 | g.87612381T>G | CA357603023 | DSPP | c.195T>G (p.Asp65Glu) | |
| 4 | g.87612382A>C | CA440294101 | DSPP | c.196A>C (p.Arg66=) | |
| 4 | g.87612382A>G | CA357603024 | DSPP | c.196A>G (p.Arg66Gly) | |
| 4 | g.87612382A>T | CA357603025 | DSPP | c.196A>T (p.Arg66Ter) | |
| 4 | g.87612383G>A | CA3000851 | DSPP | c.197G>A (p.Arg66Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612383G>C | CA357603026 | DSPP | c.197G>C (p.Arg66Thr) | |
| 4 | g.87612383G= | CA1474384421 | DSPP | c.197G= (p.Arg66=) | |
| 4 | g.87612383G>T | CA357603027 | DSPP | c.197G>T (p.Arg66Ile) | |
| 4 | g.87612384A>C | CA357603028 | DSPP | c.198A>C (p.Arg66Ser) | |
| 4 | g.87612384A>G | CA440294106 | DSPP | c.198A>G (p.Arg66=) | |
| 4 | g.87612384A>T | CA357603029 | DSPP | c.198A>T (p.Arg66Ser) | |
| 4 | g.87612385G>A | CA357603030 | DSPP | c.199G>A (p.Gly67Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612385G>C | CA357603031 | DSPP | c.199G>C (p.Gly67Arg) | gnomAD v4 |
| 4 | g.87612385G= | CA1474384422 | DSPP | c.199G= (p.Gly67=) | |
| 4 | g.87612385G>T | CA357603032 | DSPP | c.199G>T (p.Gly67Ter) | |
| 4 | g.87612386del | CA2578139798 | DSPP | c.200del (p.Gly67GlufsTer22) | |
| 4 | g.87612386G>A | CA357603035 | DSPP | c.200G>A (p.Gly67Glu) | |
| 4 | g.87612386G>C | CA357603033 | DSPP | c.200G>C (p.Gly67Ala) | |
| 4 | g.87612386G>T | CA357603034 | DSPP | c.200G>T (p.Gly67Val) | |
| 4 | g.87612387A>C | CA440294112 | DSPP | c.201A>C (p.Gly67=) | |
| 4 | g.87612387A>G | CA440294113 | DSPP | c.201A>G (p.Gly67=) | |
| 4 | g.87612387A>T | CA440294114 | DSPP | c.201A>T (p.Gly67=) | |
| 4 | g.87612388A= | CA1474384423 | DSPP | c.202A= (p.Arg68=) | |
| 4 | g.87612388A>C | CA440294115 | DSPP | c.202A>C (p.Arg68=) | |
| 4 | g.87612388A>G | CA357603036 | DSPP | c.202A>G (p.Arg68Gly) | |
| 4 | g.87612388A>T | CA126929 | DSPP | c.202A>T (p.Arg68Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612389G>A | CA357603037 | DSPP | c.203G>A (p.Arg68Lys) | dbSNP |
| 4 | g.87612389G>C | CA357603038 | DSPP | c.203G>C (p.Arg68Thr) | |
| 4 | g.87612389G= | CA1474384424 | DSPP | c.203G= (p.Arg68=) | |
| 4 | g.87612389G>T | CA357603039 | DSPP | c.203G>T (p.Arg68Met) | |
| 4 | g.87612390G>A | CA440294119 | DSPP | c.204G>A (p.Arg68=) | |
| 4 | g.87612390G>C | CA357603040 | DSPP | c.204G>C (p.Arg68Ser) | |
| 4 | g.87612390G>T | CA357603041 | DSPP | c.204G>T (p.Arg68Ser) | |
| 4 | g.87612390_87612391delinsGC | CA1474384425 | DSPP | c.204_205delinsGC (p.Arg68=) | |
| 4 | g.87612391del | CA553085325 | DSPP | c.205del (p.Gln69LysfsTer20) | dbSNP gnomAD v2 |
| 4 | g.87612391C>A | CA357603042 | DSPP | c.205C>A (p.Gln69Lys) | |
| 4 | g.87612391C>G | CA357603043 | DSPP | c.205C>G (p.Gln69Glu) | |
| 4 | g.87612391C>T | CA357603044 | DSPP | c.205C>T (p.Gln69Ter) | gnomAD v4 |
| 4 | g.87612392A>C | CA357603047 | DSPP | c.206A>C (p.Gln69Pro) | |
| 4 | g.87612392A>G | CA357603046 | DSPP | c.206A>G (p.Gln69Arg) | gnomAD v4 |
| 4 | g.87612392A>T | CA357603045 | DSPP | c.206A>T (p.Gln69Leu) | |
| 4 | g.87612393A= | CA1474384426 | DSPP | c.207A= (p.Gln69=) | |
| 4 | g.87612393A>C | CA357603048 | DSPP | c.207A>C (p.Gln69His) | |
| 4 | g.87612393A>G | CA440294123 | DSPP | c.207A>G (p.Gln69=) | |
| 4 | g.87612393A>T | CA357603049 | DSPP | c.207A>T (p.Gln69His) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.87612394G>A | CA357603050 | DSPP | c.208G>A (p.Glu70Lys) | |
| 4 | g.87612394G>C | CA357603051 | DSPP | c.208G>C (p.Glu70Gln) | |
| 4 | g.87612394G>T | CA357603052 | DSPP | c.208G>T (p.Glu70Ter) | |
| 4 | g.87612395A>C | CA357603053 | DSPP | c.209A>C (p.Glu70Ala) | |
| 4 | g.87612395A>G | CA357603054 | DSPP | c.209A>G (p.Glu70Gly) | |
| 4 | g.87612395A>T | CA357603055 | DSPP | c.209A>T (p.Glu70Val) | |
| 4 | g.87612396G>A | CA440294125 | DSPP | c.210G>A (p.Glu70=) | |
| 4 | g.87612396G>C | CA357603056 | DSPP | c.210G>C (p.Glu70Asp) | |
| 4 | g.87612396G>T | CA357603057 | DSPP | c.210G>T (p.Glu70Asp) | |
| 4 | g.87612397A= | CA1474384427 | DSPP | c.211A= (p.Asn71=) | |
| 4 | g.87612397A>C | CA357603058 | DSPP | c.211A>C (p.Asn71His) | |
| 4 | g.87612397A>G | CA357603059 | DSPP | c.211A>G (p.Asn71Asp) | gnomAD v4 |
| 4 | g.87612397A>T | CA3000852 | DSPP | c.211A>T (p.Asn71Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.87612398A>C | CA357603060 | DSPP | c.212A>C (p.Asn71Thr) | |
| 4 | g.87612398A>G | CA357603062 | DSPP | c.212A>G (p.Asn71Ser) | |
| 4 | g.87612398A>T | CA357603061 | DSPP | c.212A>T (p.Asn71Ile) | |
| 4 | g.87612399T>A | CA357603063 | DSPP | c.213T>A (p.Asn71Lys) | |
| 4 | g.87612399T>C | CA440294128 | DSPP | c.213T>C (p.Asn71=) | gnomAD v4 |
| 4 | g.87612399T>G | CA357603064 | DSPP | c.213T>G (p.Asn71Lys) | |
| 4 | g.87612400A= | CA1474384428 | DSPP | c.214A= (p.Thr72=) | |
| 4 | g.87612400A>C | CA357603065 | DSPP | c.214A>C (p.Thr72Pro) | |
| 4 | g.87612400A>G | CA3000853 | DSPP | c.214A>G (p.Thr72Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612400A>T | CA357603066 | DSPP | c.214A>T (p.Thr72Ser) | |
| 4 | g.87612401C>A | CA357603067 | DSPP | c.215C>A (p.Thr72Asn) | |
| 4 | g.87612401C= | CA1474384429 | DSPP | c.215C= (p.Thr72=) | |
| 4 | g.87612401C>G | CA357603068 | DSPP | c.215C>G (p.Thr72Ser) | |
| 4 | g.87612401C>T | CA3000854 | DSPP | c.215C>T (p.Thr72Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612402C>A | CA440294131 | DSPP | c.216C>A (p.Thr72=) | |
| 4 | g.87612402C>G | CA440294132 | DSPP | c.216C>G (p.Thr72=) | gnomAD v4 |
| 4 | g.87612402C>T | CA440294133 | DSPP | c.216C>T (p.Thr72=) | |
| 4 | g.87612403C>A | CA357603069 | DSPP | c.217C>A (p.Gln73Lys) | |
| 4 | g.87612403C>G | CA357603070 | DSPP | c.217C>G (p.Gln73Glu) | |
| 4 | g.87612403C>T | CA357603071 | DSPP | c.217C>T (p.Gln73Ter) | gnomAD v4 |
| 4 | g.87612404A>C | CA357603074 | DSPP | c.218A>C (p.Gln73Pro) | |
| 4 | g.87612404A>G | CA357603073 | DSPP | c.218A>G (p.Gln73Arg) | |
| 4 | g.87612404A>T | CA357603072 | DSPP | c.218A>T (p.Gln73Leu) | |
| 4 | g.87612405A= | CA1474384430 | DSPP | c.219A= (p.Gln73=) | |
| 4 | g.87612405A>C | CA357603076 | DSPP | c.219A>C (p.Gln73His) | dbSNP |
| 4 | g.87612405A>G | CA440294136 | DSPP | c.219A>G (p.Gln73=) | |
| 4 | g.87612405A>T | CA357603075 | DSPP | c.219A>T (p.Gln73His) | |
| 4 | g.87612406G>A | CA357603079 | DSPP | c.220G>A (p.Asp74Asn) | gnomAD v4 |
| 4 | g.87612406G>C | CA357603077 | DSPP | c.220G>C (p.Asp74His) | |
| 4 | g.87612406G>T | CA357603078 | DSPP | c.220G>T (p.Asp74Tyr) | |
| 4 | g.87612407A>C | CA357603080 | DSPP | c.221A>C (p.Asp74Ala) | |
| 4 | g.87612407A>G | CA357603081 | DSPP | c.221A>G (p.Asp74Gly) | |
| 4 | g.87612407A>T | CA357603082 | DSPP | c.221A>T (p.Asp74Val) | |
| 4 | g.87612408T>A | CA357603083 | DSPP | c.222T>A (p.Asp74Glu) | |
| 4 | g.87612408T>C | CA440294142 | DSPP | c.222T>C (p.Asp74=) | |
| 4 | g.87612408T>G | CA357603084 | DSPP | c.222T>G (p.Asp74Glu) |